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Article: A functional null mutation of SCN1B in a patient with Dravet syndrome.
Full Text (publisher's website) ; Article Metadata ; Article Data (extracted) Patino GA; Claes LR; Lopez-Santiago LF; Slat EA; Dondeti RS; Chen C; O'Malley HA; Gray CB; Miyazaki H; Nukina N; Oyama F; De Jonghe P; Isom LL J. Neurosci., 2009
Table 6.
Characteristics of SCN1B mutants associated with epilepsy
| Mutation | Heterologous system | VGSCa α subunit tested | Results | Reference |
|---|---|---|---|---|
| p.C121W | Xenopus oocytes | Nav1.2 | Similar functional modulation of α when injected at high concentration. Decreased modulation at lower concentration.b | Meadows et al., 2002 |
| 1610 cells | Nav1.3 | Association with α. No shift in voltage dependence of current inactivation. Decreased frequency-dependent rundown. Acceleration of recovery from fast inactivation.b No dominant-negative effect. | Meadows et al., 2002 | |
| 1610 cells | Nav1.2 | Association with α. No shift in voltage dependence of current inactivation. No decrease in frequency-dependent rundown. Acceleration of recovery from fast inactivation.b Equally effective as WT in promoting cell surface expression of α subunits.b | Meadows et al., 2002 | |
| HEK-293 cells | Nav1.4 | Equally effective as wild type in promoting cell surface expression of α subunits.b | Tammaro et al., 2002 | |
| Unable to accelerate recovery from inactivation.a | ||||
| Channels containing p.C121W may require larger-than-normal stimuli to open but, once activated, inactivate considerably less readily than channels containing wild-type β1. | Aman et al., 2009 | |||
| HEK-293 cells | Nav1.1 | |||
| p.I70-E74del | N/A | N/A | N/A | Audenaert et al., 2003 |
| p.R85C | HEK-293 cells | Nav1.2 | No modulation of current density. | Xu et al., 2007 |
| Inability to shift voltage dependence of fast activation, fast or slow inactivation, decrease time constant of fast inactivation, or accelerate recovery from fast inactivation.b No protein expression detected.b | ||||
| p.R85H | HEK-293 cells | Nav1.2 | No modulation of current density. Inability to shift voltage dependence of fast activation or inactivation or accelerate recovery from fast inactivation.b No protein expression detected.b | Xu et al., 2007 |
| p.R125C | HEK-293 cells | Nav1.1 | Reduced cell surface expression.b | Present paper |
| 1610 cells | Nav1.2 | Decreased sodium current density.b Inability to shift voltage dependence of inactivation. Reduced frequency-dependent rundown, accelerated recovery from fast inactivation, increased persistent current.b Reduced cell surface expression.b | Present paper | |
| Xenopus oocytes | Nav1.2 | Channel modulation similar to wild type. | Present paper |
Inferred neuron-electrophysiology data values
| Neuron Type | Neuron Description | Ephys Prop | Extracted Value | Standardized Value | Content Source |
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